Search Results - "GOSgene"

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities by Drury, Suzanne, Williams, Hywel, Trump, Natalie, Boustred, Christopher, Lench, Nicholas, Scott, Richard H., Chitty, Lyn S.

“…Objective In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other…”
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder by Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.

“…Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar…”
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A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia by Whittaker, Danielle E, Oleari, Roberto, Gregory, Louise C, Le Quesne-Stabej, Polona, Williams, Hywel J, Torpiano, John G, Formosa, Nancy, Cachia, Mario J, Field, Daniel, Lettieri, Antonella, Ocaka, Louise A, Paganoni, Alyssa Jj, Rajabali, Sakina H, Riegman, Kimberley Lh, De Martini, Lisa B, Chaya, Taro, Robinson, Iain Caf, Furukawa, Takahisa, Cariboni, Anna, Basson, M Albert, Dattani, Mehul T

“…The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription…”
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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly by Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

“…Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong…”
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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation by Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J., Harakalova, Magdalena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C.A.F., Dattani, Mehul T.

“…The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for start codon…”
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The use of whole-exome sequencing to disentangle complex phenotypes by Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip

“…The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so…”
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Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants by Savastano, C.P., Brito, L.A., Faria, Á.C., Setó‐Salvia, N., Peskett, E., Musso, C.M., Alvizi, L., Ezquina, S.A.M., James, C., GOSgene, Beales, P., Lees, M., Moore, G.E., Stanier, P., Passos‐Bueno, M.R.

“…Non‐syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome‐wide association studies (GWAS) on NSCL/P…”
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Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency by McGlacken-Byrne, Sinéad M, Del Valle, Ignacio, Quesne Stabej, Polona Le, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A, Ishida, Miho, Suntharalingham, Jenifer P, Gagunashvili, Andrey, Ogunbiyi, Olumide K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E, Dattani, Mehul T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F, Livera, Gabriel, Conway, Gerard S, Achermann, John C

“…Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined…”
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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulationResearch in context by Louise C. Gregory, Carolina B. Ferreira, Sara K. Young-Baird, Hywel J. Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A. Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas E. Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul T. Dattani

“…Background: The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for…”
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